MCID: GNT033
MIFTS: 25

Genetic Prion Diseases malady

Category: Genetic diseases (common)

Aliases & Classifications for Genetic Prion Diseases

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Aliases & Descriptions for Genetic Prion Diseases:

Name: Genetic Prion Diseases 23 24 26
Transmissible Spongiform Encephalopathies 23 24 48 2
 
Prion Diseases 67
Tses 23

Characteristics:

GeneReviews:

23
Penetrance: the prnp pathogenic variants p.glu200lys and p.val210ile are commonly associated with a variable but generally age-dependent penetrance such that the older the individual, the greater likelihood of his/her manifesting the disease. thus, it is not uncommon to encounter a situation in which the parents and other relatives of an affected individual may be unaffected but have a prnp pathogenic variant [kovacs et al 2005]. interestingly, the p.val180ile variant appears to occur almost exclusively in individuals presenting with cjd in later life [kovacs et al 2005]...


Classifications:



Summaries for Genetic Prion Diseases

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NINDS:48 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

MalaCards based summary: Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to prion disease and spondylarthropathy. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein), and among its related pathways is Neuroscience. Affiliated tissues include brain, and related mouse phenotypes are endocrine/exocrine gland and muscle.

CDC:2 Classic CJD is a human prion disease. It is a neurodegenerative disorder with characteristic clinical and diagnostic features. 

GeneReviews for NBK1229

Related Diseases for Genetic Prion Diseases

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Graphical network of diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Symptoms for Genetic Prion Diseases

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Drugs & Therapeutics for Genetic Prion Diseases

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246

Search NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases26 24 PRNP

Anatomical Context for Genetic Prion Diseases

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MalaCards organs/tissues related to Genetic Prion Diseases:

35
Brain

Animal Models for Genetic Prion Diseases or affiliated genes

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MGI Mouse Phenotypes related to Genetic Prion Diseases:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.3APOE, HLA-DQB1, PRNP
2MP:00053699.3APOE, HLA-DQB1, PRNP
3MP:00053898.5APOE, HLA-DQB1, PRNP

Publications for Genetic Prion Diseases

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Articles related to Genetic Prion Diseases:

(show all 23)
idTitleAuthorsYear
1
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. (27716661)
2017
2
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. (27943639)
2017
3
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. (26864450)
2016
4
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. (26488179)
2015
5
Clinical findings and diagnosis in genetic prion diseases in Germany. (26076917)
2015
6
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. (26193641)
2015
7
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. (25220284)
2014
8
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. (24903967)
2014
9
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. (24686303)
2014
10
Ascertainment bias causes false signal of anticipation in genetic prion disease. (25279981)
2014
11
Genetic prion disease: no role for the immune system in disease pathogenesis? (25239861)
2014
12
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. (23808898)
2013
13
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. (23922744)
2013
14
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. (23555862)
2013
15
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. (22198568)
2012
16
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. (22874564)
2012
17
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. (21232818)
2011
18
Genetic prion disease-associated myelodysplasia and SIADH in siblings. (22097952)
2011
19
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. (21293298)
2011
20
ApoE distribution and family history in genetic prion diseases in Germany. (18157657)
2008
21
Genetic prion disease: the EUROCJD experience. (16187142)
2005
22
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. (10617204)
1999
23
Genetic Prion Diseases (20301407)
1993

Variations for Genetic Prion Diseases

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Clinvar genetic disease variations for Genetic Prion Diseases:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP)NT expansionPathogenicrs193922906GRCh37Chr 20, 4680026: 4680049
2PRNPNM_000311.3(PRNP): c.305C> T (p.Pro102Leu)SNVPathogenicrs74315401GRCh37Chr 20, 4680171: 4680171
3PRNPNM_000311.3(PRNP): c.350C> T (p.Ala117Val)SNVPathogenicrs74315402GRCh37Chr 20, 4680216: 4680216
4PRNPNM_000311.3(PRNP): c.598G> A (p.Glu200Lys)SNVPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
5PRNPNM_000311.3(PRNP): c.593T> C (p.Phe198Ser)SNVPathogenicrs74315405GRCh37Chr 20, 4680459: 4680459
6PRNPNM_000311.3(PRNP): c.650A> G (p.Gln217Arg)SNVPathogenicrs74315406GRCh37Chr 20, 4680516: 4680516
7PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)SNVPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
8PRNPNM_000311.3(PRNP): c.314C> T (p.Pro105Leu)SNVPathogenicrs11538758GRCh37Chr 20, 4680180: 4680180
9PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)SNVPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
10PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)SNVPathogenicrs74315409GRCh37Chr 20, 4680561: 4680561
11PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)SNVPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
12PRNPNM_000311.3(PRNP): c.560A> G (p.His187Arg)SNVPathogenicrs74315413GRCh37Chr 20, 4680426: 4680426
13PRNPNM_000311.3(PRNP): c.313C> T (p.Pro105Ser)SNVPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
14PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)SNVPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398

Expression for genes affiliated with Genetic Prion Diseases

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Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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Pathways related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0APOE, PRNP

GO Terms for genes affiliated with Genetic Prion Diseases

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Cellular components related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:00160208.5APOE, HLA-DQB1, PRNP

Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:00069799.0APOE, PRNP

Sources for Genetic Prion Diseases

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet